LAMP, MERIT
LAMP, MERIT
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
2020-01-01 Gotta, F; Lamp, M; Geroldi, A; Trevisan, L; Origone, P; Fugazza, G; Fabbri, S; Nesti, C; Rubegni, A; Morani, F; Santorelli, Fm; Bellone, E; Mandich, P.
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"
2018-01-01 Grandis, M; Geroldi, A; Gulli, R; Manganelli, F; Gotta, F; Lamp, M; Origone, P; Trevisan, L; Gemelli, C; Fabbri, S; Schenone, A; Tozza, S; Santoro, L; Bellone, E; Mandich, P.
Contribution of copy number variations in CMT1X: a retrospective study.
2015-01-01 Capponi, Simona; Geroldi, Alessandro; Pezzini, I; Gulli, Rossella; Ciotti, Paola; Ursino, Giulia; Lamp, Merit; Reni, L; Schenone, Angelo; Grandis, Marina; Mandich, Paola; Bellone, Emilia
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype.
2015-01-01 Origone, Paola; Accardo, J; Verdiani, Simonetta; Lamp, Merit; Arnaldi, Dario; Bellone, Emilia; Picco, A; Morbelli, Silvia; Mandich, Paola; Nobili, FLAVIO MARIANO
Quiz page february 2015: renal colic in an adolescent.
2015-01-01 Piccoli, Gb; Cimmino, Ma; Lamp, Merit; Gotta, Fabio; Vigotti, Fn; Priola, Am; Veltri, A; Mandich, Paola
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients.
2019-01-01 Origone, P; Geroldi, A; Lamp, M; Sanguineri, F; Caponnetto, C; Cabona, C; Gotta, F; Trevisan, L; Bellone, E; Manganelli, F; Devigili, G; Mandich, P.
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.
2018-01-01 Origone, P; Gotta, F; Lamp, M; Trevisan, L; Geroldi, A; Massucco, D; Grazzini, M; Massa, F; Ticconi, F; Bauckneht, M; Marchese, R; Abbruzzese, G; Bellone, E; Mandich, P.
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients
2018-01-01 Lamp, M; Origone, P; Geroldi, A; Verdiani, S; Gotta, F; Caponnetto, C; Devigili, G; Verriello, L; Scialò, C; Cabona, C; Canosa, A; Vanni, I; Bellone, E; Eleopra, R; Mandich, P.
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.
2017-01-01 Geroldi, Alessandro; Lastella, P; Patruno, M; Gotta, Fabio; Resta, N; Devigili, G; Sabbà, C; Gulli, Rossella; Lamp, Merit; Origone, Paola; Mandich, Paola; Bellone, Emilia
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? | 1-gen-2020 | Gotta, F; Lamp, M; Geroldi, A; Trevisan, L; Origone, P; Fugazza, G; Fabbri, S; Nesti, C; Rubegni, A; Morani, F; Santorelli, Fm; Bellone, E; Mandich, P. | |
| Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" | 1-gen-2018 | Grandis, M; Geroldi, A; Gulli, R; Manganelli, F; Gotta, F; Lamp, M; Origone, P; Trevisan, L; Gemelli, C; Fabbri, S; Schenone, A; Tozza, S; Santoro, L; Bellone, E; Mandich, P. | |
| Contribution of copy number variations in CMT1X: a retrospective study. | 1-gen-2015 | Capponi, Simona; Geroldi, Alessandro; Pezzini, I; Gulli, Rossella; Ciotti, Paola; Ursino, Giulia; Lamp, Merit; Reni, L; Schenone, Angelo; Grandis, Marina; Mandich, Paola; Bellone, Emilia | |
| Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. | 1-gen-2015 | Origone, Paola; Accardo, J; Verdiani, Simonetta; Lamp, Merit; Arnaldi, Dario; Bellone, Emilia; Picco, A; Morbelli, Silvia; Mandich, Paola; Nobili, FLAVIO MARIANO | |
| Quiz page february 2015: renal colic in an adolescent. | 1-gen-2015 | Piccoli, Gb; Cimmino, Ma; Lamp, Merit; Gotta, Fabio; Vigotti, Fn; Priola, Am; Veltri, A; Mandich, Paola | |
| Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. | 1-gen-2019 | Origone, P; Geroldi, A; Lamp, M; Sanguineri, F; Caponnetto, C; Cabona, C; Gotta, F; Trevisan, L; Bellone, E; Manganelli, F; Devigili, G; Mandich, P. | |
| Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. | 1-gen-2018 | Origone, P; Gotta, F; Lamp, M; Trevisan, L; Geroldi, A; Massucco, D; Grazzini, M; Massa, F; Ticconi, F; Bauckneht, M; Marchese, R; Abbruzzese, G; Bellone, E; Mandich, P. | |
| Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients | 1-gen-2018 | Lamp, M; Origone, P; Geroldi, A; Verdiani, S; Gotta, F; Caponnetto, C; Devigili, G; Verriello, L; Scialò, C; Cabona, C; Canosa, A; Vanni, I; Bellone, E; Eleopra, R; Mandich, P. | |
| Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. | 1-gen-2017 | Geroldi, Alessandro; Lastella, P; Patruno, M; Gotta, Fabio; Resta, N; Devigili, G; Sabbà, C; Gulli, Rossella; Lamp, Merit; Origone, Paola; Mandich, Paola; Bellone, Emilia |